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American Journal of Medical Genetics. Part A
|
October 15, 2020
Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient
Tommaso Lo Barco, Elisa Osanni, Andrea Bordugo, et al.
International Journal of Molecular Sciences
|
June 27, 2024
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions
Eleonora Pavan, Paolo Peruzzo, Silvia Cattarossi, et al.
Molecular Genetics and Metabolism
|
February 19, 2013
Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency
Monica Del Rizzo, Alessandro P Burlina, Jörn Oliver Sass, et al.
Journal of Inherited Metabolic Disease
|
September 11, 2010
Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report
Monica Del Rizzo, Marina Fanin, Alessia Cerutti, et al.
Public Health Nutrition
|
July 25, 2017
High-protein goat's milk diet identified through newborn screening: clinical warning of a potentially dangerous dietetic practice
Evelina Maines, Giorgia Gugelmo, Elisa Tadiotto, et al.
Microorganisms
|
December 24, 2021
Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation
Andrea Bordugo, Elisa Salvetti, Giulia Rodella, et al.
Journal of Neurology
|
January 31, 2020
Multiple acyl-COA dehydrogenase deficiency in elderly carriers
Francesco Macchione, Leonardo Salviati, Andrea Bordugo, et al.
International Journal of Neonatal Screening
|
July 25, 2024
Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report
Evelina Maines, Roberto Franceschi, Francesca Rivieri, et al.
Behavioural Neurology
|
September 16, 2024
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients' Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus
Carlotta Spagnoli, Roberta Battini, Filippo Manti, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
January 22, 2016
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations
Milena Romanello, Stefania Zampieri, Nadia Bortolotti, et al.
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Search research articles
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Showing results (11-20 of 32) with videos related to
Sort By:
Page
of 4
American Journal of Medical Genetics. Part A
|
October 15, 2020
Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient
Tommaso Lo Barco, Elisa Osanni, Andrea Bordugo, et al.
International Journal of Molecular Sciences
|
June 27, 2024
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions
Eleonora Pavan, Paolo Peruzzo, Silvia Cattarossi, et al.
Molecular Genetics and Metabolism
|
February 19, 2013
Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency
Monica Del Rizzo, Alessandro P Burlina, Jörn Oliver Sass, et al.
Journal of Inherited Metabolic Disease
|
September 11, 2010
Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report
Monica Del Rizzo, Marina Fanin, Alessia Cerutti, et al.
Public Health Nutrition
|
July 25, 2017
High-protein goat's milk diet identified through newborn screening: clinical warning of a potentially dangerous dietetic practice
Evelina Maines, Giorgia Gugelmo, Elisa Tadiotto, et al.
Microorganisms
|
December 24, 2021
Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation
Andrea Bordugo, Elisa Salvetti, Giulia Rodella, et al.
Journal of Neurology
|
January 31, 2020
Multiple acyl-COA dehydrogenase deficiency in elderly carriers
Francesco Macchione, Leonardo Salviati, Andrea Bordugo, et al.
International Journal of Neonatal Screening
|
July 25, 2024
Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report
Evelina Maines, Roberto Franceschi, Francesca Rivieri, et al.
Behavioural Neurology
|
September 16, 2024
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients' Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus
Carlotta Spagnoli, Roberta Battini, Filippo Manti, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
January 22, 2016
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations
Milena Romanello, Stefania Zampieri, Nadia Bortolotti, et al.
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of 4